Results 151 to 155 of about 350 (155)

P317 Cerebral creatine deficiency syndromes: clinical and laboratory follow-up in five patients with GAMT deficiency

European Journal of Paediatric Neurology, 2009
G. Haliloglu, K. Karlı Oguz, A. Dursun, A. Tokatlı, O. Bodamer, T. Coskun, M. Topcu   +6 more
openaire   +1 more source

Cerebral creatine deficiency syndrome

Okayama Igakkai Zasshi (Journal of Okayama Medical Association)
openaire   +1 more source

Creatine transporter deficiency in two half‐brothers

American Journal of Medical Genetics, Part A, 2010
Orly Ardon, Cristina Amat Di San Filippo, Nicola Longo   +2 more
exaly  

O63 – 1788 Diagnosing the tip of an iceberg in a potentially treatable neurometabolic disorder: cerebral creatine deficiency syndromes

European Journal of Paediatric Neurology, 2013
G Haliloglu, KK Oguz, S Onol, A Tokatli, T Coskun, M Topcu   +5 more
openaire   +1 more source

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Clinical Biochemistry, 2007
Angela Arias, Mercè Pineda, Jaume Campistol   +2 more
exaly